Canonical Allele Identifier: CA2776946450

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504922_92504925del , CM000669.2:g.92504922_92504925del	GRCh38
NC_000007.13:g.92134236_92134239del , CM000669.1:g.92134236_92134239del	GRCh37
NC_000007.12:g.91972172_91972175del	NCBI36
NG_008341.1:g.28607_28610del
NG_008341.2:g.28607_28610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-23_1901-20del MANE Select	ENSP00000248633.4:n.1901-23_1901-20del
ENST00000248633.8:c.1901-23_1901-20del	ENSP00000248633.4:n.1901-23_1901-20del
ENST00000422866.1:c.719-23_719-20del
ENST00000428214.5:c.1900+1323_1900+1326del	ENSP00000394413.1:n.1900+1323_1900+1326del
ENST00000438045.5:c.935-23_935-20del	ENSP00000410438.1:n.935-23_935-20del
ENST00000484913.5:n.1940-23_1940-20del
ENST00000496420.5:n.1577-23_1577-20del
NM_000466.2:c.1901-23_1901-20del	NP_000457.1:n.1901-23_1901-20del
NM_001282677.1:c.1900+1323_1900+1326del	NP_001269606.1:n.1900+1323_1900+1326del
NM_001282678.1:c.1277-23_1277-20del	NP_001269607.1:n.1277-23_1277-20del
XM_005250433.3:c.152-23_152-20del	XP_005250490.1:n.152-23_152-20del
XR_242246.3:n.1997-23_1997-20del
XM_017012319.2:c.152-23_152-20del	XP_016867808.1:n.152-23_152-20del
XR_001744808.2:n.928-23_928-20del
XR_242246.5:n.1948-23_1948-20del
NM_000466.3:c.1901-23_1901-20del MANE Select	NP_000457.1:n.1901-23_1901-20del
NM_001282677.2:c.1900+1323_1900+1326del	NP_001269606.1:n.1900+1323_1900+1326del
NM_001282678.2:c.1277-23_1277-20del	NP_001269607.1:n.1277-23_1277-20del